Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Primary Erythermalgia
CUI: C0014805
Disease: Primary Erythermalgia
14 0.925 0.040 2 166277281 missense variant A/G snv 0.800 1.000 11 2004 2014
Abnormality of pain sensation
CUI: C4023691
Disease: Abnormality of pain sensation
3 0.925 0.040 2 166277281 missense variant A/G snv 0.700 0
Acute episodes of neuropathic symptoms
3 0.925 0.040 2 166277281 missense variant A/G snv 0.700 0
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.925 0.040 2 166277281 missense variant A/G snv 0.010 1.000 1 2013 2013